She was born 2011 with small cerebellum and pons. Delayed motor- and cognitive development, weak muscle tone and ataxia.
Symptoms / Signs
- Ataxia, Low muscle tone,
Previously Considered Diagnoses
- Pontocereberal hypoplacia (PCH), however no known genes match. Spino Cereberall Ataxia (SCA) tests were negative.
Genetic Variants of Interest
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